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Clinical and pathological features of a neonate with autosomal recessive polycystic kidney disease caused by a nonsensePKHD1mutation

✍ Scribed by Xi-Hui Zhou, Zhi-Yan Hui, Yuan Li

Book ID
120907393
Publisher
SP Children’s Hospital, Zhejiang University School of Medicine
Year
2013
Tongue
English
Weight
367 KB
Volume
9
Category
Article
ISSN
1708-8569

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Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): Molecular genetics, clinical experience, and fetal morphology
✍ Zerres, Klaus; M�cher, Gabi; Becker, Jutta; Steinkamm, Carsten; Rudnik-Sch�nebor 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 67 KB 👁 2 views

Autosomal recessive polycystic kidney disease (ARPKD) is one of the most common hereditary renal cystic diseases and has a high infant mortality. Prenatal diagnosis using fetal sonography can be unreliable, especially in early pregnancy. The ARPKD locus has been mapped to proximal chromosome 6p allo